A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11543899



Internal ID5846217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:100781209..100782615hg38UCSC Ensembl
Innerchr4:100781237..100782588hg38UCSC Ensembl
Outerchr4:100781182..100782643hg38UCSC Ensembl
chr4:101702366..101703772hg19UCSC Ensembl
Innerchr4:101702394..101703745hg19UCSC Ensembl
Outerchr4:101702339..101703800hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381407
hg191407
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601583
Supporting Variants
SamplesNA19222
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11543899
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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